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rs397514600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514600(C;C)
Make rs397514600(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position67174230
GeneNOL3
is asnp
is mentioned by
dbSNPrs397514600
ebirs397514600
HLIrs397514600
Exacrs397514600
Varsomers397514600
Maprs397514600
PheGenIrs397514600
hapmaprs397514600
1000 genomesrs397514600
hgdprs397514600
ensemblrs397514600
gopubmedrs397514600
geneviewrs397514600
scholarrs397514600
googlers397514600
pharmgkbrs397514600
gwascentralrs397514600
openSNPrs397514600
23andMers397514600
23andMe allrs397514600
SNP Nexus

SNPshotrs397514600
SNPdbers397514600
MSV3drs397514600
GWAS Ctlgrs397514600
Max Magnitude0
ClinVar
Risk rs397514600(C;C)
Alt rs397514600(C;C)
Reference rs397514600(G;G)
Significance Pathogenic
Disease Myoclonus
Variation info
Gene NOL3
CLNDBN Myoclonus, familial cortical
Reversed 0
HGVS NC_000016.9:g.67208133G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033024.2,